Analysis of CALM2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1724-LGZ)

Introduction

Official Full Name: calmodulin 2
Also known as: caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII
This gene is a member of the calmodulin gene family. There are three different calmodulin genes scattered throughout the genome that encode the same protein but differ at the nucleotide level. Calmodulin is a calcium-binding protein that plays an important role in signaling pathways, cell cycle progression, and cell proliferation. Some infants with severe long Qt syndrome (LQTS), who exhibit life-threatening ventricular arrhythmias with neurodevelopmental delay and seizures, have been found to have either this gene or another member of the calmodulin gene family Mutation occurs. Mutations in this gene have also been found in patients with milder forms of LQTS, while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare disorder , is considered an important cause of sudden cardiac death in young people. Pseudogenes of this gene are present on chromosomes 10, 13 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms.